20181113_EGA_MELA_Naevus - samples

NIAID Data Ecosystem2026-03-13 收录

先天性黑色素细胞痣基因组学

肿瘤-正常组织比较分析

数据链接：

https://www.omicsdi.org/dataset/ega/EGAD00001004474 数据链接链接失效反馈

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资源简介：

Aligned, merged and deduplicated BAM files from HiSeq whole genome sequencing of 28 samples: matched tumour-normal pairs from 14 melanocytic nevi casesEGA dataset EGAD00001004474

创建时间：

2022-08-30

Supplementary Figure 1-Deficient mismatch repair is detected in large to giant congenital melanocytic nevus: gaining insight into etiology and identifying potential treatments.

先天性黑色素细胞痣基因组学

错配修复缺陷检测

Supplementary Figure 1. WES disvovered germline mutation of MMR gene in LGCMN patients. Germline mutations of core MMR genes are colored in red. Patient 1 has a classic-type LCMN with only 3 satellite

NIAID Data Ecosystem40

Genomic analysis of adult case of ocular surface giant congenital melanocytic nevus and associated clinicopathological findings

先天性黑色素细胞痣基因组学

KRAS突变分析

Conjunctival nevi are the most common tumor of the ocular surface. There are some rare reports of so-called ‘giant’ conjunctival nevi. We report a case of a 47-year-old female with a cutaneous and ocu

Figshare2020-08-24 更新20

Whole-exome Sequencing Reveals Distinct Genomic Features in Large/Giant Congenital Melanocytic Naevi

先天性黑色素细胞痣基因组学

皮肤病变分子诊断

Supplementary materials for “Whole-exome Sequencing Reveals Distinct Genomic Features in Large/Giant Congenital Melanocytic Naevi”

Mendeley Data10

Whole-exome sequencing of large to giant congenital melanocytic naevi

先天性黑色素细胞痣基因组学

皮肤遗传突变分析

This study aims to identify driver mutation of large to giant congenital melanocytic naevi and compare the mutation spectra of main naevi and satellite naevi.

NIAID Data Ecosystem30

Genotypic and gene expression studies in Congenital Melanocytic Nevi: insight into initial step of tumoral melanogenesis. Homo sapiens

黑色素瘤分子机制

先天性黑色素细胞痣基因组学

Large Congenital Melanocytic Naevi have a higher propensity to malignant transformation compared to acquired naevi. They thus represent a good model for studying initial steps of melanocarcinogenesis.

NIAID Data Ecosystem20

20181113_EGA_MELA_Naevus - samples

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